Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability

Cristina Medina-Trillo; Francisco Sánchez-Sánchez; José-Daniel Aroca-Aguilar; Jesús-José Ferre-Fernández; Laura Morales; Carmen-Dora Méndez-Hernández; Fiona Blanco-Kelly; Carmen Ayuso; Julián García-Feijoo; Julio Escribano

doi:10.1371/journal.pone.0119272

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Peer-reviewed

Research Article

Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability

Cristina Medina-Trillo,

Affiliations Área de Genética, Facultad de Medicina, Universidad de Castilla-La Mancha, Albacete, Spain; Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha, Albacete, Spain, Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality, Instituto de Salud Carlos III, Madrid, Spain
⨯
Francisco Sánchez-Sánchez,

Affiliations Área de Genética, Facultad de Medicina, Universidad de Castilla-La Mancha, Albacete, Spain; Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha, Albacete, Spain, Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality, Instituto de Salud Carlos III, Madrid, Spain
⨯
José-Daniel Aroca-Aguilar,

Affiliations Área de Genética, Facultad de Medicina, Universidad de Castilla-La Mancha, Albacete, Spain; Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha, Albacete, Spain, Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality, Instituto de Salud Carlos III, Madrid, Spain
⨯
Jesús-José Ferre-Fernández,

Affiliation Área de Genética, Facultad de Medicina, Universidad de Castilla-La Mancha, Albacete, Spain; Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha, Albacete, Spain
⨯
Laura Morales,

Affiliation Servicio de Oftalmología, Hospital Clínico San Carlos, Madrid, Spain; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain
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Carmen-Dora Méndez-Hernández,

Affiliation Servicio de Oftalmología, Hospital Clínico San Carlos, Madrid, Spain; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain
⨯
Fiona Blanco-Kelly,

Affiliation Servicio de Genética, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz (IIS-FJD), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Carmen Ayuso,

Affiliation Servicio de Genética, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz (IIS-FJD), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
⨯
Julián García-Feijoo,

Affiliation Servicio de Oftalmología, Hospital Clínico San Carlos, Madrid, Spain; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid, Spain
⨯
Julio Escribano

* E-mail: julio.escribano@uclm.es

Affiliations Área de Genética, Facultad de Medicina, Universidad de Castilla-La Mancha, Albacete, Spain; Instituto de Investigación en Discapacidades Neurológicas (IDINE), Universidad de Castilla-La Mancha, Albacete, Spain, Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality, Instituto de Salud Carlos III, Madrid, Spain
⨯

Hypo- and Hypermorphic FOXC1 Mutations in Dominant Glaucoma: Transactivation and Phenotypic Variability

Cristina Medina-Trillo,
Francisco Sánchez-Sánchez,
José-Daniel Aroca-Aguilar,
Jesús-José Ferre-Fernández,
Laura Morales,
Carmen-Dora Méndez-Hernández,
Fiona Blanco-Kelly,
Carmen Ayuso,
Julián García-Feijoo,
Julio Escribano

Published: March 18, 2015
https://doi.org/10.1371/journal.pone.0119272

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